| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| DDG2P v3.18 | GNAS | Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.18 | GNAS | Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.18 | GNAS | Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from GNAS HYPERFUNCTION 139320; PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233; ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | GNAS |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11029463;15592469;18182455). The MOI for this gene-disease associtaion is stated as imprinted in G2P and this gene is present in the Genomic imprinting panel in PanelApp (https://panelapp.genomicsengland.co.uk/panels/227/). The DDG2P confidence category for the disease MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 1594625;15126527;1944469). The DDG2P confidence category for the disease ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 1505964;2122458;8072545;8702665;11095461;9328353;10487696;11073544;17299070).; to: The DDG2P confidence category for the disease PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11029463;15592469;18182455). The MOI for this gene-disease associtaion is stated as imprinted in G2P and this gene is present in the Genomic imprinting panel in PanelApp (https://panelapp.genomicsengland.co.uk/panels/227/). The DDG2P confidence category for the disease MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic (PMIDs: 1594625;15126527;1944469). The DDG2P confidence category for the disease ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 1505964;2122458;8072545;8702665;11095461;9328353;10487696;11073544;17299070). |
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| DDG2P v3.12 | GNAS | Achchuthan Shanmugasundram reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1944469, 18182455, 1505964, 11095461, 10487696, 17299070, 2122458, 15592469, 9328353, 8702665, 11029463, 11073544, 15126527, 8072545, 1594625; Phenotypes: ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580, MCCUNE-ALBRIGHT SYNDROME, OMIM:174800, PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GNAS | Achchuthan Shanmugasundram Publications for gene: GNAS were updated from 8072545; 8702665; 2122458; 11073544; 10487696; 17299070; 11095461; 1505964; 9328353 to 1944469; 10487696; 1505964; 11095461; 17299070; 2122458; 15592469; 9328353; 8702665; 11029463; 11073544; 15126527; 8072545; 18182455; 1594625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | GNAS | Rebecca Foulger Tag mosaicism tag was added to gene: GNAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | GNAS | Rebecca Foulger commented on gene: GNAS: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNAS | Rebecca Foulger reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GNAS | Rebecca Foulger Added phenotypes GNAS HYPERFUNCTION 139320 for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GNAS |
Rebecca Foulger Added phenotypes ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580 for gene: GNAS Publications for gene GNAS were changed from 11029463; 15592469; 18182455 to 8072545; 8702665; 2122458; 11073544; 10487696; 17299070; 11095461; 1505964; 9328353 |
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| DDG2P v0.1 | GNAS | Rebecca Foulger Added phenotypes ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GNAS |
Rebecca Foulger gene: GNAS was added gene: GNAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAS were set to 11029463; 15592469; 18182455 Phenotypes for gene: GNAS were set to PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233 |
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